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Congenital heart disease (CHD) is a common structural anomaly, affecting ~ 1% of live births worldwide. Advancements in medical and surgical management have significantly improved survival for children with CHD, however, extracardiac malformations (ECM) continue to be a significant cause of morbidity and mortality. Despite clinical significance, there is limited literature available on ECM in neonates with CHD, especially from Latin America. A cross-sectional study of neonates with severe CHD evaluated by the medical-surgical board team at Fundación Cardiovascular de Colombia from 2014 to 2019 was completed to characterize morbidity, mortality, surgical outcomes, and ECM. Demographics and surgical outcomes were compared between neonates with and without ECM. Medical record data were abstracted and descriptive statistical analysis was performed. Of 378 neonates with CHD, 262 had isolated CHD (69.3%) and 116 had ECM (30.7%). The most common ECM was gastrointestinal (n = 18, 15.5%) followed by central nervous system (n = 14, 12%). Most neonates required a biventricular surgical approach (n = 220, 58.2%). Genetic testing was performed more often for neonates with ECM (n = 65, 56%) than neonates with isolated CHD (n = 14, 5.3%). Neonates with ECM had lower birth weight, longer hospital stays, and higher postsurgical complications rates. There was no difference in survival between groups. Overall, Screening for ECM in neonates with CHD is important and identification of ECM can guide clinical decision-making. These findings have important implications for pediatric healthcare providers, especially in low- and middle-income countries, where the burden of CHD is high and resources for managing CHD and extracardiac malformations may be limited.
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Cardiopatías Congénitas , Recién Nacido , Humanos , Niño , Colombia/epidemiología , Estudios Transversales , Estudios Retrospectivos , Cardiopatías Congénitas/epidemiología , Cardiopatías Congénitas/cirugía , Pruebas GenéticasRESUMEN
Lysosomal positioning and mTOR (mammalian target of rapamycin) signaling coordinate cellular responses to nutrient levels. Inadequate nutrient sensing can result in growth delays, a hallmark of Lowe syndrome. OCRL mutations cause Lowe syndrome, but the role of OCRL in nutrient sensing is unknown. Here, we show that OCRL is localized to the centrosome by its ASH domain and that it recruits microtubule-anchoring factor SSX2IP to the centrosome, which is important in the formation of the microtubule-organizing center. Deficiency of OCRL in human and mouse cells results in loss of microtubule-organizing centers and impaired microtubule-based lysosome movement, which in turn leads to mTORC1 inactivation and abnormal nutrient sensing. Centrosome-targeted PACT-SSX2IP can restore microtubule anchoring and mTOR activity. Importantly, boosting the activity of mTORC1 restores the nutrient sensing ability of Lowe patients' cells. Our findings highlight mTORC1 as a novel therapeutic target for Lowe syndrome.
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Síndrome Oculocerebrorrenal , Animales , Proteínas de Ciclo Celular , Humanos , Lisosomas , Diana Mecanicista del Complejo 1 de la Rapamicina/genética , Ratones , Proteínas Asociadas a Microtúbulos , Microtúbulos , Monoéster Fosfórico HidrolasasRESUMEN
Coughing is a primary symptomatic pathway of respiratory or air-borne disease transmission, including COVID-19. Several parameters such as cougher's age, gender, and posture affect particle dispersion indoors. This study numerically investigates the transient cough evolution, contamination range, particle reach probability, and deposition fraction for different age groups of males and females in standing and sitting postures in a ventilated room. The efficacy of a cloth mask has also been studied with and without the influence of air ventilation. Validated Computational Fluid Dynamics methodology has been implemented to model complex physics such as turbulent buoyant cloud, particle-air interaction, particle collision/breakup, and droplet evaporation. Our results show that overall, the contamination range is slightly lower for females due to lower cough velocities and particle counts. Moreover, a significant fraction of particles crosses the two meters social distancing guideline threshold with an unhindered cough. Besides, wearing a cloth mask reduces the average contamination range by approximately two-third of the distance compared to coughing without the mask. However, aerosolized particles reach longer streamwise distances and drift for extended durations beyond thirty seconds. This study can be used to improve the heating, ventilation, and air conditioning recommendations and distancing guidelines in indoor settings.
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Lowe syndrome is a rare X-linked disorder characterized by bilateral congenital cataracts and glaucoma, mental retardation, and proximal renal tubular dysfunction. Mutations in OCRL, an inositol polyphosphate 5-phosphatase that dephosphorylates PI(4,5)P2, cause Lowe syndrome. Previously we showed that OCRL localizes to the primary cilium, which has a distinct membrane phospholipid composition, but disruption of phosphoinositides in the ciliary membrane is poorly understood. Here, we demonstrate that cilia from Lowe syndrome patient fibroblasts exhibit increased levels of PI(4,5)P2 and decreased levels of PI4P. In particular, subcellular distribution of PI(4,5)P2 build-up was observed at the transition zone. Accumulation of ciliary PI(4,5)P2 was pronounced in mouse embryonic fibroblasts (MEFs) derived from Lowe syndrome mouse model as well as in Ocrl-null MEFs, which was reversed by reintroduction of OCRL. Similarly, expression of wild-type OCRL reversed the elevated PI(4,5)P2 in Lowe patient cells. Accumulation of sonic hedgehog protein in response to hedgehog agonist was decreased in MEFs derived from a Lowe syndrome mouse model. Together, our findings show for the first time an abnormality in ciliary phosphoinositides of both human and mouse cell models of Lowe syndrome.
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Cilios/metabolismo , Síndrome Oculocerebrorrenal/genética , Fosfatidilinositol 4,5-Difosfato/metabolismo , Monoéster Fosfórico Hidrolasas/genética , Animales , Línea Celular , Proteínas Hedgehog/fisiología , Humanos , Ratones , Ratones Noqueados , Monoéster Fosfórico Hidrolasas/metabolismo , Receptores Acoplados a Proteínas G/metabolismo , Sistemas de Mensajero Secundario , Receptor Smoothened/metabolismoRESUMEN
Plateau iris configuration describes an anatomic abnormality in which large or anteriorly positioned pars plicata push the iris root forward, thereby narrowing the anterior chamber angle. Plateau iris syndrome (PIS) is diagnosed if the angle remains occludable, either spontaneously or pharmacologically, after iridotomy. PIS has traditionally been treated with chronic pilocarpine or laser peripheral iridoplasty. A series of 9 eyes of 6 patients with PIS, diagnosed by dark room provocative testing and ultrasound biomicroscopy (UBM) following iridotomy, underwent cataract extraction and endoscopic cyclophotocoagulation (ECP). The ciliary body was treated for a median of 180° (range of 120-360°). Post-ECP, the angles in areas treated with ECP were open with corresponding flattened ciliary processes on UBM, while the angles remained occludable in quadrants untreated by ECP despite lens extraction. The mean follow-up time post-ECP was 73.7 ± 34 months (range 11-122 months). The mean IOP was reduced from a baseline of 25.2 ± 10.9 mm Hg on 3.4 ± 1.0 IOP lowering medications to a mean IOP of 17.1 ± 5.3 mm Hg (p < 0.05) on 1.9 ± 1.5, (p < 0.01) medications at last visit. There were no cases of chronic inflammation, eye pain, decreased vision, retinal detachment, or hypotony. Lens extraction and ECP offers an alternative treatment option for patients with PIS, which may directly address the underlying anatomic abnormality leading to angle closure in PIS.
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Extracción de Catarata , Cuerpo Ciliar/cirugía , Glaucoma de Ángulo Cerrado/cirugía , Enfermedades del Iris/cirugía , Coagulación con Láser/métodos , Anciano , Anciano de 80 o más Años , Cuerpo Ciliar/diagnóstico por imagen , Endoscopía , Femenino , Humanos , Presión Intraocular/fisiología , Enfermedades del Iris/diagnóstico por imagen , Láseres de Gas/uso terapéutico , Masculino , Microscopía Acústica , Persona de Mediana Edad , Tonometría OcularRESUMEN
We investigated whether lines and shapes that present face-like features would be associated with emotions. In Experiment 1, participants associated concave, convex, or straight lines with the words happy or sad. Participants found it easiest to associate the concave line with happy and the convex line with sad. In Experiment 2, participants rated (valence, pleasantness, liking, and tension) and categorised (valence and emotion words) two convex and concave lines that were paired with six distinct pairs of eyes. The presence of eyes affected participants' valence ratings and response latencies; more congruent eye-mouth matches produced more consistent ratings and faster reaction times. In Experiment 3, we examined whether dots that resembled eyes would be associated with emotional words. Participants found it easier to match certain sets of dots with specific emotions. These results suggest that facial gestures that are associated with specific emotions can be captured using relatively simple shapes and lines.
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Emociones , Expresión Facial , Reconocimiento Facial , Adulto , Femenino , Humanos , Masculino , Estimulación Luminosa , Adulto JovenRESUMEN
Research on the crossmodal correspondences has revealed that seemingly unrelated perceptual information can be matched across the senses in a manner that is consistent across individuals. An interesting extension of this line of research is to study how sensory information biases action. In the present study, we investigated whether different sounds (i.e. tones and piano chords) would bias participants' hand movements in a free movement task. Right-handed participants were instructed to move a computer mouse in order to represent three tones and two chords. They also had to rate each sound in terms of three visual analogue scales (slow-fast, unpleasant-pleasant, and weak-strong). The results demonstrate that tones and chords influence hand movements, with higher-(lower-)pitched sounds giving rise to a significant bias towards upper (lower) locations in space. These results are discussed in terms of the literature on forward models, embodied cognition, crossmodal correspondences, and mental imagery. Potential applications sports and rehabilitation are discussed briefly.
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Percepción Auditiva/fisiología , Mano , Movimiento/fisiología , Sonido , Estimulación Acústica , Adolescente , Adulto , Femenino , Lateralidad Funcional , Humanos , Masculino , Persona de Mediana Edad , Factores de Tiempo , Escala Visual Analógica , Adulto JovenRESUMEN
This dataset provides a collection of Continuous Glucose Monitoring (CGM) data, insulin dose administration, meal ingestion counted in carbohydrate grams, steps, calories burned, heart rate, and sleep quality and quantity assessment ac- quired from 25 people with type 1 diabetes mellitus (T1DM). CGM data was acquired by FreeStyle Libre 2 CGMs, and Fitbit Ionic smartwatches were used to obtain steps, calories, heart rate, and sleep data for at least 14 days. This dataset could be utilized to obtain glucose prediction models, hypoglycemia and hyperglycemia prediction models, and research on the relationships among sleep, CGM values, and the rest of the mentioned variables. This dataset could be used directly from the preprocessed version or customized from raw data. The data set has been used previously with different machine learning algorithms to predict glucose values, hypo, and hyperglycemia and to analyze influences among the features and the quality and quantity of sleep in people with T1DM.
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Improving our ability to monitor fragmented tropical ecosystems is a critical step in supporting the stewardship of these complex landscapes. We investigated the structural characteristics of vegetation classes in Ucayali, Peru, employing a co-production approach. The vegetation classes included three agricultural classes (mature oil palm, monocrop cacao, and agroforestry cacao plantations) and three forest regeneration classes (mature lowland forest, secondary lowland forest, and young lowland vegetation regrowth). We combined local knowledge with spaceborne lidar from NASA's Global Ecosystem Dynamics Investigation mission to classify vegetation and characterize the horizontal and vertical structure of each vegetation class. Mature lowland forest had consistently higher mean canopy height and lower canopy height variance than secondary lowland forest (µ = 29.40 m, sd = 6.89 m vs. µ = 20.82 m, sd = 9.15 m, respectively). The lower variance of mature forest could be attributed to the range of forest development ages in the secondary forest patches. However, secondary forests exhibited a similar vertical profile to mature forests, with each cumulative energy percentile increasing at similar rates. We also observed similar mean and standard deviations in relative height ratios (RH50/RH95) for mature forest, secondary forest, and oil palm even when removing the negative values from the relative height ratios and interpolating from above-ground returns only (mean RH50/RH95 of 0.58, 0.54, and 0.53 for mature forest, secondary forest, and oil palm, respectively) (p < .0001). This pattern differed from our original expectations based on local knowledge and existing tropical forest succession studies, pointing to opportunities for future work. Our findings suggest that lidar-based relative height metrics can complement local information and other remote sensing approaches that rely on optical imagery, which are limited by extensive cloud cover in the tropics. We show that characterizing ecosystem structure with a co-production approach can support addressing both the technical and social challenges of monitoring and managing fragmented tropical landscapes.
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Fármacos Anti-VIH , Infecciones por VIH/tratamiento farmacológico , Fármacos Anti-VIH/administración & dosificación , Fármacos Anti-VIH/economía , Fármacos Anti-VIH/provisión & distribución , Infecciones por VIH/epidemiología , Humanos , Asistencia Médica/organización & administración , Asistencia Médica/estadística & datos numéricos , México , Educación del Paciente como Asunto , Vigilancia de la Población , Evaluación de Programas y Proyectos de Salud , Seguridad Social/organización & administración , Seguridad Social/estadística & datos numéricosRESUMEN
To meet the stringent Great Lakes Initiative (GLI) wastewater discharge mercury (Hg) limit of 1.3 ppt (ng/L), mercury removal technologies need to be identified and investigated. The goals of this study were to (1) identify and assess available wastewater treatment technologies for mercury removal from an oil refinery wastewater; and (2) conduct bench-scale tests to provide comparable, transparent, and uniform results to assess their performance at low mercury concentrations. The study found that many tested technologies were able to achieve the GLI mercury target concentration at the bench-scale, albeit with different efficiencies and engineering implications. These results demonstrate that at this scale there is no fundamental physical or chemical barrier to achieving < 1.3 ng Hg/L in the tested wastewater. The study also found that some technologies were effective on particulate mercury whereas others were effective on dissolved mercury. One emerging treatment technology was found to be effective on both particulate and dissolved mercury. Three mercury-removal technologies--ultrafiltration (particulate mercury), adsorption (dissolved mercury), and an emerging reactive filtration technology (particulate and dissolved mercury)--are recommended for further study. This research offers treatment alternatives for different forms of mercury in an oil refinery wastewater, which might be applicable to other types of mercury-containing wastewater.
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Industria Química , Lagos , Mercurio/análisis , Petróleo , Contaminantes Químicos del Agua/análisis , Adsorción , Filtración , Termodinámica , Estados UnidosRESUMEN
Background: Surgical site infection (SSI) is a major complication of surgical procedures and contributes to morbidity, mortality, and healthcare costs. It is commonly caused by Gram-negative bacteria and should be monitored in hospital units. Objective: To identify critical points to implement an antibiotic form for surgical wound infection management. Material and methods: Descriptive observational study in 100 cultures of wounds with SSI. The most common diagnosis, the microorganism involved, sensitivity to antibiotics and prescription consistency were identified. In addition, demographic variables were assessed and a questionnaire was applied to surgeons in order to identify the critical points to implement a local formulary of antibiotics. Results: 37% of cultures came from female patients. The most common diagnosis was hollow viscus perforation in 31%. The most common microorganism was Escherichia coli ESBL in 20% and 55% of these were sensitive to imipenem. The critical points observed were consistency in the prescription of antimicrobials, which reached only 29%, and that surgeons did not actively participate in strategies for the rational use of antibiotics. Conclusions: As a critical point to implement the antibiotic form, little involvement of surgeons with the hospital infection control team was found. The incidence of SSI was 2.4%, predominantly in emergency surgery. The presence of E. coli ESBL is frequent, with resistance to broad-spectrum antimicrobials.
Introducción: las infecciones del sitio quirúrgico (ISQ) son una complicación importante de los procedimientos quirúrgicos y contribuyen a la morbilidad, la mortalidad y los costos sanitarios. Comúnmente son causadas por bacterias Gram-negativas y deben ser monitoreadas en las unidades hospitalarias. Objetivo: identificar puntos críticos para implementar un formulario de antibióticos para el manejo de infección de herida quirúrgica. Material y métodos: estudio observacional descriptivo en 100 cultivos de heridas con ISQ. Se identificó el diagnóstico más común, el microorganismo involucrado, la sensibilidad a los antibióticos y la congruencia de la prescripción. Además, se evaluaron variables demográficas y se aplicó un cuestionario a cirujanos para identificar los puntos críticos para implementar un formulario local de antibióticos. Resultados: el 37% de los cultivos procedieron de pacientes mujeres. El diagnóstico más común fue perforación de víscera hueca en el 31%. El microrganismo más común fue Escherichia coli BLEE en el 20% y el 55% de estos fueron sensibles a imipenem. Los puntos críticos observados fueron la congruencia en la prescripción de antimicrobianos que alcanzó solo 29% y que los cirujanos no participaron activamente en las estrategias del uso razonado de antibióticos. Conclusiones: como punto crítico para implementar el formulario de antibióticos se encontró poca participación de los cirujanos con el equipo hospitalario de control de infecciones. La incidencia de ISQ fue del 2.4% y preedominaron en la cirugía de urgencia. La presencia de E. coli BLEE es frecuente, con resistencia en antimicrobianos de amplio espectro.
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Antibacterianos , Infección de la Herida Quirúrgica , Humanos , Femenino , Antibacterianos/uso terapéutico , Infección de la Herida Quirúrgica/tratamiento farmacológico , Infección de la Herida Quirúrgica/prevención & control , Infección de la Herida Quirúrgica/diagnóstico , Escherichia coli , ImipenemRESUMEN
In order to compare treatability test results evaluating low-level mercury (Hg) removal from oil refinery wastewater, improvements in Hg analytical methods were conducted at two US EPA certified analytical labs. The revisions in the analytical protocols improved Hg recoveries and hence enabled more reliable data interpretation and comparison for the specific wastewater tested. Nevertheless, significant differences between results from the two laboratories were identified in a split-sample experiment.
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Monitoreo del Ambiente/métodos , Mercurio/análisis , Contaminantes Químicos del Agua/análisis , Monitoreo del Ambiente/normas , Industria Procesadora y de Extracción/estadística & datos numéricos , Contaminación por Petróleo/estadística & datos numéricos , Proyectos de Investigación , Eliminación de Residuos Líquidos/estadística & datos numéricosRESUMEN
Supporting homeostasis in a pregnant woman with brain death to achieve fetal viability is called somatic support. We present a case of young pregnant woman at 21 weeks' gestation who developed acute respiratory distress syndrome secondary to influenza A H2N3 infection requiring veno-venous extracorporeal membrane oxygenation (VV ECMO) support for refractory hypoxemia. The clinical course was complicated by intracranial hemorrhage and subsequent brain death. After multidisciplinary team discussion with her family, consensus was reached to continue somatic support with VV ECMO to enable fetal development to attain extrauterine viability. The challenging clinical, ethical, and legal concerns are discussed.
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Oxigenación por Membrana Extracorpórea , Gripe Humana , Síndrome de Dificultad Respiratoria , Muerte Encefálica , Oxigenación por Membrana Extracorpórea/efectos adversos , Femenino , Humanos , Embarazo , Mujeres EmbarazadasRESUMEN
BACKGROUND: Abnormalities within language-related anatomical structures have been associated with clinical symptoms and with language and memory deficits in schizophrenia. Recent studies suggest disruptions in functional connectivity within the Inferior Frontal Gyrus (IFG) network in schizophrenia. However, due to technical challenges, anatomical connectivity abnormalities within this network and their involvement in clinical and cognitive deficits have not been studied. MATERIAL AND METHODS: Diffusion and anatomical scans were obtained from 23 chronic schizophrenia patients and 23 matched controls. The IFG was automatically segmented, and its white matter connections extracted and measured with newly-developed stochastic tractography tools. Correlations between anatomical structures and measures of semantic processing were also performed. RESULTS: White Matter connections between the IFG and posterior brain regions followed two distinct pathways: dorsal and ventral. Both demonstrated left lateralization, but ventral pathway abnormalities were only found in schizophrenia. IFG volumes also showed left lateralization and abnormalities in schizophrenia. Further, despite similar laterality and abnormality patterns, IFG volumes and white matter connectivity were not correlated with each other in either group. Interestingly, measures of semantic processing correlated with white matter connectivity in schizophrenia and with gray matter volumes in controls. Finally, hallucinations were best predicted by both gray matter and white matter measures together. CONCLUSIONS: Our results suggest abnormalities within the ventral IFG network in schizophrenia, with white matter abnormalities better predicting semantic deficits. The lack of a statistical relationship between coexisting gray and white matter deficits might suggest their different origin and the necessity for a multimodal approach in future schizophrenia studies.
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Algoritmos , Lóbulo Frontal/patología , Interpretación de Imagen Asistida por Computador/métodos , Red Nerviosa/patología , Vías Nerviosas/fisiopatología , Esquizofrenia/patología , Adulto , Simulación por Computador , Interpretación Estadística de Datos , Imagen de Difusión Tensora , Femenino , Humanos , Aumento de la Imagen/métodos , Masculino , Modelos Neurológicos , Modelos Estadísticos , Reproducibilidad de los Resultados , Sensibilidad y Especificidad , Procesos EstocásticosRESUMEN
The mammalian visual system is composed of circuitry connecting sensory input from the retina to the processing core of the visual cortex. The two main retinorecipient brain targets, the superior colliculus (SC) and dorsal lateral geniculate nucleus (dLGN), bridge retinal input and visual output. The primary cilium is a conserved organelle increasingly viewed as a critical sensor for the regulation of developmental and homeostatic pathways in most mammalian cell types. Moreover, cilia have been described as crucial for neurogenesis, neuronal maturation, and survival in the cortex and retina. However, cilia in the visual relay center remain to be fully described. In this study, we characterized the ciliation profile of the SC and dLGN and found that the overall number of ciliated cells declined during development. Interestingly, shorter ciliated cells in both regions were identified as neurons, whose numbers remained stable over time, suggesting that cilia retention is a critical feature for optimal neuronal function in SC and dLGN. Our study suggests that primary cilia are important for neuronal maturation and function in cells of the SC and dLGN.
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Cilios/ultraestructura , Cuerpos Geniculados/ultraestructura , Neurogénesis/fisiología , Colículos Superiores/ultraestructura , Vías Visuales/ultraestructura , Animales , Macaca mulatta , Ratones , Ratones Endogámicos C57BL , Microscopía Confocal , Neuronas/ultraestructura , Vías Visuales/fisiologíaRESUMEN
Purpose: Steroid-induced glaucoma is a common form of secondary open angle glaucoma characterized by ocular hypertension (elevated intraocular pressure [IOP]) in response to prolonged glucocorticoid exposure. Elevated IOP occurs with increased outflow resistance and altered trabecular meshwork (TM) function. Recently, we used an optogenetic approach in TM to regulate the 5-phosphatase, OCRL, which contributes to regulating PI(4,5)P2 levels. Here, we applied this system with the aim of reversing compromised outflow function in a steroid-induced ocular hypertension mouse model. Methods: Elevated IOP was induced by chronic subconjunctival dexamethasone injections in wild-type C57Bl/6j mice. AAV2 viruses containing optogenetic modules of cryptochrome 2 (Cry2)-OCRL-5ptase and CIBN-GFP were injected into the anterior chamber. Four weeks after viral expression and dexamethasone exposure, IOP was measured by tonometer and outflow facility was measured by perfusion apparatus. Human TM cells were treated with dexamethasone, stimulated by light and treated with rhodamine-phalloidin to analyze actin structure. Results: Dexamethasone treatment elevated IOP and decreased outflow facility in wild-type mice. Optogenetic constructs were expressed in the TM of mouse eyes. Light stimulation caused CRY2-OCRL-5ptase to translocate to plasma membrane (CIBN-CAAX-GFP) and cilia (CIBN-SSTR3-GFP) in TM cells, which rescued the IOP and outflow facility. In addition, aberrant actin structures formed by dexamethasone treatment were reduced by optogenetic stimulation in human TM cells in culture. Conclusions: Subcellular targeting of inositol phosphatases to remove PIP2 represents a promising strategy to reverse defective TM function in steroid-induced ocular hypertension. Translational Relevance: Targeted modulation of OCRL may be used to decrease steroid-induced elevated IOP.
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Glaucoma de Ángulo Abierto , Glaucoma , Hipertensión Ocular , Animales , Glucocorticoides , Presión Intraocular , Ratones , Ratones Endogámicos C57BL , Hipertensión Ocular/inducido químicamente , OptogenéticaRESUMEN
BACKGROUND: Senior-Loken syndrome is a rare genetic disorder that presents with nephronophthisis and retinal degeneration, leading to end-stage renal disease and progressive blindness. The most frequent cause of juvenile nephronophthisis is a mutation in the nephronophthisis type 1 (NPHP1) gene. NPHP1 encodes the protein nephrocystin-1, which functions at the transition zone (TZ) of primary cilia. METHODS: We report a 9-year-old Senior-Loken syndrome boy with NPHP1 deletion, who presents with bilateral vision decrease and cystic renal disease. Renal function deteriorated to require bilateral nephrectomy and renal transplant. We performed immunohistochemistry, H&E staining, and electron microscopy on the renal sample to determine the subcellular distribution of ciliary proteins in the absence of NPHP1. RESULTS: Immunohistochemistry and electron microscopy of the resected kidney showed disorganized cystic structures with loss of cilia in renal tubules. Phosphoinositides have been recently recognized as critical components of the ciliary membrane and immunostaining of kidney sections for phosphoinositide 5-phosphatase, INPP5E, showed loss of staining compared to healthy control. Ophthalmic examination showed decreased electroretinogram consistent with early retinal degeneration. CONCLUSION: The decreased expression of INPP5E specifically in the primary cilium, coupled with disorganized cilia morphology, suggests a novel role of NPHP1 that it is involved in regulating ciliary phosphoinositide composition in the ciliary membrane of renal tubular cells.
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Proteínas Adaptadoras Transductoras de Señales/genética , Ciliopatías/genética , Proteínas del Citoesqueleto/genética , Enfermedades Renales Quísticas/genética , Amaurosis Congénita de Leber/genética , Atrofias Ópticas Hereditarias/genética , Monoéster Fosfórico Hidrolasas/metabolismo , Niño , Cilios/metabolismo , Ciliopatías/metabolismo , Ciliopatías/patología , Eliminación de Gen , Humanos , Riñón/metabolismo , Riñón/patología , Enfermedades Renales Quísticas/metabolismo , Enfermedades Renales Quísticas/patología , Amaurosis Congénita de Leber/metabolismo , Amaurosis Congénita de Leber/patología , Masculino , Atrofias Ópticas Hereditarias/metabolismo , Atrofias Ópticas Hereditarias/patología , Monoéster Fosfórico Hidrolasas/genéticaRESUMEN
OBJETIVO: Identificar los factores asociados a dehiscencia de anastomosis de intestino delgado y grueso. MÉTODO: Se incluyeron 92 anastomosis de intestino delgado y grueso, en mayores de 18 años, realizadas en 2012-2016. Se evaluaron factores asociados en el preoperatorio, el transoperatorio y el posoperatorio. RESULTADOS: Se presentó dehiscencia de anastomosis en el 13% de los casos. Se encontró una asociación significativa con ingesta previa de medicamentos (p = 0.05; odds ratio [OR]: 1.17; IC 95%) y con anastomosis primaria (p = 0.05; OR: 3.6; 0.92-14.5). En los pacientes con dehiscencia se incrementó la estancia intrahospitalaria. CONCLUSIÓN: La presencia de dehiscencia de anastomosis fue similar a lo reportado en la literatura. Los factores asociados fueron la ingesta previa de medicamentos y la anastomosis primaria. OBJECTIVE: To identify the factors associated with dehiscence of anastomosis of the small and large intestine. METHOD: 92 anastomoses of the small and large intestine were included in patients over 18 years of age, performed in 2012-2016. Associated factors were evaluated in pre, trans and postoperative. RESULTS: Anastomosis dehiscence was presented in 13%. A significant association was found for previous medication intake (p = 0.05; odds ratio [OR]: 1.17; 1.024-1.33) and primary anastomosis (p = 0.05, OR: 3.6; 0.92-14.5). In patients with dehiscence, the hospital stay was increased. CONCLUSION: The presence of dehiscence of anastomosis was similar to that reported in the literature. The associated factors were previous medication intake, and primary anastomosis.